Canonical Allele Identifier: CA2679483128

Gene: LCA5

Linked Data

• ClinVar Variation Id: 2807970
• ClinVar RCV Id: RCV003684603
• gnomAD v4: 6-79491576-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79491576T>C , CM000668.2:g.79491576T>C	GRCh38
NC_000006.11:g.80201293T>C , CM000668.1:g.80201293T>C	GRCh37
NC_000006.10:g.80258012T>C	NCBI36
NG_016011.1:g.50855A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369846.9:c.1098+12A>G MANE Select	ENSP00000358861.4:n.1098+12A>G
ENST00000369846.8:c.1098+12A>G	ENSP00000358861.4:n.1098+12A>G
ENST00000392959.5:c.1098+12A>G	ENSP00000376686.1:n.1098+12A>G
ENST00000467898.3:c.1098+12A>G	ENSP00000474463.1:n.1098+12A>G
NM_001122769.2:c.1098+12A>G	NP_001116241.1:n.1098+12A>G
NM_181714.3:c.1098+12A>G	NP_859065.2:n.1098+12A>G
XM_005248665.3:c.1098+12A>G	XP_005248722.1:n.1098+12A>G
XM_011535504.1:c.1098+12A>G	XP_011533806.1:n.1098+12A>G
XM_005248665.4:c.1098+12A>G	XP_005248722.1:n.1098+12A>G
NM_001122769.3:c.1098+12A>G MANE Select	NP_001116241.1:n.1098+12A>G
NM_181714.4:c.1098+12A>G	NP_859065.2:n.1098+12A>G